ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "benign" from any submitter

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 322
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HGVS dbSNP gnomAD frequency
NM_000116.5(TAFAZZIN):c.110-17= rs62617809 0.99999
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_014049.5(ACAD9):c.-44_-41dup rs387906242 0.04863
NM_001148.6(ANK2):c.3796+18G>A rs66792339 0.02360
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000383.4(AIRE):c.652+14C>T rs41277546 0.01242
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_000383.4(AIRE):c.1279-18C>T rs72650678 0.00839
NM_000518.5(HBB):c.93-23T>C rs111851677 0.00593
FIBRINOGEN PARIS 1 rs2066862 0.00546
NM_138694.4(PKHD1):c.1964+17G>T rs201349527 0.00517
NM_001364905.1(LRBA):c.2674G>A (p.Ala892Thr) rs151098394 0.00465
NM_032588.4(TRIM63):c.*2G>A rs77965623 0.00441
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245 0.00349
NM_000053.4(ATP7B):c.3557-6C>T rs140708492 0.00314
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu) rs138281308 0.00302
NM_024537.4(CARS2):c.1632C>A (p.Ser544Arg) rs141184379 0.00297
NM_000162.5(GCK):c.46-12C>T rs142829768 0.00296
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000282.4(PCCA):c.231+15C>T rs202049874 0.00291
NM_015702.3(MMADHC):c.-8C>T rs180812156 0.00282
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) rs28362286 0.00262
NM_000035.4(ALDOB):c.799+6G>A rs141888548 0.00251
NM_005534.4(IFNGR2):c.708A>T (p.Glu236Asp) rs121913212 0.00235
NM_033026.6(PCLO):c.10767C>G (p.Asp3589Glu) rs149879954 0.00221
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) rs11466018 0.00217
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn) rs116134953 0.00210
NM_000484.4(APP):c.2212-11_2212-10del rs112965435 0.00206
NM_004646.4(NPHS1):c.128T>C (p.Val43Ala) rs140626538 0.00205
NM_000228.3(LAMB3):c.332A>G (p.Asp111Gly) rs55824996 0.00198
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856 0.00198
NM_000071.3(CBS):c.954+8G>A rs76292057 0.00188
NM_016653.3(MAP3K20):c.744+9A>G rs148211031 0.00181
NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu) rs138825640 0.00175
NM_001025356.3(ANO6):c.1274G>A (p.Arg425Gln) rs142960268 0.00170
NM_030777.4(SLC2A10):c.-15C>T rs377142129 0.00166
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869 0.00163
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_000108.5(DLD):c.338-18T>A rs184851386 0.00160
NM_000352.6(ABCC8):c.3399+13G>A rs182340196 0.00160
NM_000376.3(VDR):c.1085C>T (p.Thr362Ile) rs11574115 0.00159
NM_000243.3(MEFV):c.1610+10G>T rs11466033 0.00136
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg) rs142736845 0.00133
NM_001267550.2(TTN):c.40223A>G (p.Glu13408Gly) rs183950862 0.00132
NM_000492.4(CFTR):c.4242+10T>C rs138642693 0.00127
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595 0.00125
NM_000162.5(GCK):c.208+11G>A rs77440690 0.00124
NM_001061.7(TBXAS1):c.179G>A (p.Arg60His) rs6138 0.00124
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile) rs150860808 0.00120
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_015713.5(RRM2B):c.48+96G>C rs200373694 0.00108
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe) rs201888323 0.00106
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr) rs140690030 0.00103
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NM_000458.4(HNF1B):c.1045+12T>C rs141166864 0.00097
NM_001291303.3(FAT4):c.7052A>G (p.Asn2351Ser) rs145105421 0.00096
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) rs56355310 0.00095
NM_004807.3(HS6ST1):c.1121G>A (p.Ser374Asn) rs61732021 0.00094
NM_001710.6(CFB):c.837C>G (p.Asp279Glu) rs147564718 0.00092
NM_152722.5(HEPACAM):c.1072G>A (p.Ala358Thr) rs536963649 0.00087
NM_000071.3(CBS):c.*18G>A rs200259659 0.00083
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys) rs201834513 0.00081
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_000051.4(ATM):c.7928-10T>C rs188404773 0.00079
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro) rs368060 0.00077
NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp) rs139703788 0.00076
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_005534.4(IFNGR2):c.879+19del rs193922682 0.00070
NM_175914.5(HNF4A):c.426+6G>A rs182980547 0.00070
NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe) rs199794705 0.00069
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly) rs201390755 0.00065
NM_001625.4(AK2):c.614G>A (p.Gly205Glu) rs202182972 0.00065
NM_000397.4(CYBB):c.338-13C>T rs193922447 0.00064
NM_001126108.2(SLC12A3):c.2285+8G>A rs199854613 0.00061
NM_001372044.2(SHANK3):c.3257G>T (p.Gly1086Val) rs767058690 0.00061
NM_000237.3(LPL):c.542-8C>T rs201634558 0.00059
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg) rs199676994 0.00059
NM_005502.4(ABCA1):c.5636+18A>C rs111671370 0.00056
NM_020297.4(ABCC9):c.2238-1G>A rs141281214 0.00056
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00055
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala) rs201735487 0.00053
NM_000875.5(IGF1R):c.3187-5C>T rs45495500 0.00052
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092 0.00051
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) rs147415641 0.00049
NM_000098.3(CPT2):c.1598T>C (p.Val533Ala) rs144703247 0.00048
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512 0.00047
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys) rs200955930 0.00044
NM_177965.4(CFAP418):c.521A>G (p.Lys174Arg) rs148114532 0.00039
NM_001089.3(ABCA3):c.4012G>A (p.Ala1338Thr) rs149871856 0.00038
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536 0.00037
NM_001378615.1(CC2D2A):c.4438-9C>A rs117667651 0.00036
NM_000071.3(CBS):c.1223+13G>A rs533660793 0.00035
NM_001267550.2(TTN):c.53287+6G>A rs149890360 0.00034
NM_001267550.2(TTN):c.99866-10C>T rs773128928 0.00034
NM_001367624.2(ZNF469):c.8996G>T (p.Gly2999Val) rs273585625 0.00034
NM_030777.4(SLC2A10):c.1289-6C>T rs199967429 0.00033
NM_001267550.2(TTN):c.8902+16T>A rs66507451 0.00032
NM_001035.3(RYR2):c.11092-6A>T rs397516501 0.00031
NM_001048174.2(MUTYH):c.1392+2C>T rs140288388 0.00031
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00028
NM_001378454.1(ALMS1):c.861C>T (p.Asp287=) rs377281121 0.00028
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val) rs750610895 0.00026
NM_000548.5(TSC2):c.5262C>G (p.Ile1754Met) rs397515318 0.00025
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met) rs61752424 0.00024
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met) rs193922635 0.00024
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) rs200193877 0.00024
NM_001267550.2(TTN):c.107377+14C>T rs367908657 0.00022
NM_000117.3(EMD):c.428C>T (p.Ser143Phe) rs139983160 0.00020
NM_001142864.4(PIEZO1):c.3922C>G (p.Leu1308Val) rs532112751 0.00019
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys) rs200797552 0.00019
NM_005559.4(LAMA1):c.8447G>A (p.Arg2816Gln) rs200996196 0.00019
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_001267550.2(TTN):c.65575+10T>C rs72646864 0.00017
NM_004793.4(LONP1):c.1612C>T (p.Arg538Cys) rs201664019 0.00017
NM_000251.3(MSH2):c.1276+16G>A rs368120695 0.00016
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_001148.6(ANK2):c.11032+19A>G rs200769962 0.00016
NM_005458.8(GABBR2):c.1364C>A (p.Thr455Asn) rs373607825 0.00016
NM_005633.4(SOS1):c.3706C>A (p.Pro1236Thr) rs727504636 0.00016
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln) rs115150240 0.00015
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr) rs147054690 0.00015
NM_000033.4(ABCD1):c.1780+4G>A rs193922095 0.00014
NM_001267550.2(TTN):c.21962-6C>T rs374870814 0.00014
NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg) rs141440715 0.00014
NM_139027.6(ADAMTS13):c.539+7G>A rs184864675 0.00014
NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr) rs183589498 0.00013
NM_001267550.2(TTN):c.10115-4G>A rs367648529 0.00013
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser) rs72648240 0.00013
NM_001943.5(DSG2):c.45+9C>G rs376573409 0.00013
NM_002485.5(NBN):c.1124+6G>T rs375862750 0.00013
NM_004408.4(DNM1):c.849+6C>T rs527412689 0.00013
NM_130837.3(OPA1):c.344C>T (p.Ala115Val) rs200983556 0.00013
NM_001854.4(COL11A1):c.907G>A (p.Val303Ile) rs369925361 0.00012
NM_005188.4(CBL):c.2060C>T (p.Pro687Leu) rs146705974 0.00012
NM_000179.3(MSH6):c.628-7C>A rs373129248 0.00011
NM_000249.4(MLH1):c.884+16A>G rs377598055 0.00011
NM_000251.3(MSH2):c.1387-4G>C rs376796243 0.00011
NM_001267550.2(TTN):c.97193-16T>G rs371317486 0.00011
NM_005188.4(CBL):c.2360G>A (p.Arg787His) rs200220863 0.00011
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591 0.00011
NM_032119.4(ADGRV1):c.3269T>C (p.Ile1090Thr) rs771410054 0.00011
NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile) rs371362606 0.00010
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346 0.00010
NM_000157.4(GBA1):c.605G>A (p.Arg202Gln) rs398123531 0.00009
NM_000518.5(HBB):c.316-179A>C rs185607297 0.00009
NM_001267550.2(TTN):c.57544+7dup rs750881309 0.00009
NM_001276345.2(TNNT2):c.720-4G>T rs201753429 0.00009
NM_020778.5(ALPK3):c.2181G>C (p.Glu727Asp) rs56191073 0.00009
NM_000251.3(MSH2):c.1662-10C>T rs752606387 0.00008
NM_000527.5(LDLR):c.1503G>A (p.Ala501=) rs368889457 0.00008
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630 0.00008
NM_007194.4(CHEK2):c.1259+8A>G rs368388249 0.00008
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys) rs749383532 0.00008
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu) rs747676277 0.00008
NM_000051.4(ATM):c.496+4T>C rs587781375 0.00007
NM_000249.4(MLH1):c.545+19G>T rs41285099 0.00007
NM_001278116.2(L1CAM):c.1124-6_1124-3dup rs782713149 0.00007
NM_005502.4(ABCA1):c.5690G>A (p.Arg1897Gln) rs564049659 0.00007
NM_000071.3(CBS):c.737-10C>T rs546751042 0.00006
NM_000249.4(MLH1):c.2174G>A (p.Arg725His) rs566928243 0.00006
NM_000493.4(COL10A1):c.737T>C (p.Ile246Thr) rs764388204 0.00006
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462 0.00006
NM_000535.7(PMS2):c.353+6A>G rs376449640 0.00006
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln) rs199531140 0.00006
NM_018896.5(CACNA1G):c.3553C>T (p.Arg1185Cys) rs573971701 0.00006
NM_020297.4(ABCC9):c.3070A>G (p.Ile1024Val) rs376701259 0.00006
NM_032043.3(BRIP1):c.1629-3T>C rs587780828 0.00006
NM_170707.4(LMNA):c.937-7C>G rs267607681 0.00006
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr) rs111033529 0.00006
NM_000335.5(SCN5A):c.3664-7T>A rs373156650 0.00005
NM_000465.4(BARD1):c.-4G>A rs761863671 0.00005
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His) rs533700989 0.00005
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met) rs80358866 0.00004
NM_000059.4(BRCA2):c.631+18G>A rs759965817 0.00004
NM_000410.4(HFE):c.175G>A (p.Val59Met) rs111033557 0.00004
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp) rs202164519 0.00004
NM_000545.8(HNF1A):c.1310-12C>T rs193922579 0.00004
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu) rs61753016 0.00004
NM_002294.3(LAMP2):c.-7C>T rs762305947 0.00004
NM_002485.5(NBN):c.-10A>T rs759094270 0.00004
NM_007194.4(CHEK2):c.*2dup rs749257861 0.00004
NM_018668.5(VPS33B):c.1170+5G>A rs201431055 0.00004
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser) rs199526104 0.00004
NM_024422.6(DSC2):c.408A>G (p.Arg136=) rs561653481 0.00004
NM_033380.3(COL4A5):c.4003C>T (p.Pro1335Ser) rs757653472 0.00004
NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn) rs200844059 0.00003
NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp) rs373394254 0.00003
NM_000251.3(MSH2):c.211+8C>T rs267607916 0.00003
NM_000465.4(BARD1):c.1904-5G>A rs376639978 0.00003
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) rs33962676 0.00003
NM_001278116.2(L1CAM):c.2308G>A (p.Asp770Asn) rs148516831 0.00003
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly) rs560973106 0.00003
NM_024334.3(TMEM43):c.403G>A (p.Glu135Lys) rs140347235 0.00003
NM_024675.4(PALB2):c.108+12G>A rs558824045 0.00003
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955 0.00003
NM_032119.4(ADGRV1):c.2039A>G (p.Asp680Gly) rs547076322 0.00003
NM_000038.6(APC):c.4913T>C (p.Met1638Thr) rs201797422 0.00002
NM_000051.4(ATM):c.3402+16A>G rs763382531 0.00002
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val) rs375131360 0.00002
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met) rs80358390 0.00002
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980 0.00002
NM_000077.5(CDKN2A):c.459C>T (p.Asp153=) rs778871932 0.00002
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) rs199588131 0.00002
NM_001148.6(ANK2):c.10646G>A (p.Arg3549His) rs768351547 0.00002
NM_001148.6(ANK2):c.5426C>T (p.Ala1809Val) rs531261130 0.00002
NM_001276345.2(TNNT2):c.720-6G>A rs113471285 0.00002
NM_004360.5(CDH1):c.388-8C>T rs774601444 0.00002
NM_007294.4(BRCA1):c.*20C>T rs375042815 0.00002
NM_000059.4(BRCA2):c.2771A>T (p.Asn924Ile) rs80358530 0.00001
NM_000059.4(BRCA2):c.7466A>G (p.Asp2489Gly) rs80358970 0.00001
NM_000059.4(BRCA2):c.7805+11C>A rs1060504610 0.00001
NM_000059.4(BRCA2):c.7805+8A>G rs81002847 0.00001
NM_000059.4(BRCA2):c.7806-6del rs764374133 0.00001
NM_000059.4(BRCA2):c.8331+14C>T rs1287378096 0.00001
NM_000059.4(BRCA2):c.8332-6G>T rs587780872 0.00001
NM_000059.4(BRCA2):c.8632+14T>C rs730881596 0.00001
NM_000093.5(COL5A1):c.2485-11C>T rs756350498 0.00001
NM_000249.4(MLH1):c.1731+8T>C rs370108219 0.00001
NM_000251.3(MSH2):c.-9G>C rs547444746 0.00001
NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr) rs397514806 0.00001
NM_000535.7(PMS2):c.804-15A>G rs1448706115 0.00001
NM_001035.3(RYR2):c.10142+4T>C rs397516496 0.00001
NM_001267550.2(TTN):c.40877-7A>G rs727505201 0.00001
NM_004360.5(CDH1):c.1162G>A (p.Glu388Lys) rs372838203 0.00001
NM_007194.4(CHEK2):c.683+9T>C rs1060504691 0.00001
NM_007294.4(BRCA1):c.2468G>T (p.Arg823Ile) rs876659731 0.00001
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His) rs80356911 0.00001
NM_007294.4(BRCA1):c.4485-8C>T rs397507234 0.00001
NM_007294.4(BRCA1):c.508C>T (p.Arg170Trp) rs80357325 0.00001
NM_024407.5(NDUFS7):c.47G>A (p.Gly16Asp) rs552179138 0.00001
NM_024675.4(PALB2):c.1697G>A (p.Arg566His) rs144617793 0.00001
NM_024675.4(PALB2):c.2204C>T (p.Pro735Leu) rs199743500 0.00001
NM_024757.5(EHMT1):c.2026G>A (p.Gly676Arg) rs757416132 0.00001
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe) rs755796609 0.00001
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg) rs730881622 0.00001
NM_000059.4(BRCA2):c.128A>G (p.Asn43Ser) rs2072285447
NM_000059.4(BRCA2):c.28A>G (p.Thr10Ala) rs786203080
NM_000059.4(BRCA2):c.516+17G>T rs765435155
NM_000059.4(BRCA2):c.6842-14A>T rs81002821
NM_000059.4(BRCA2):c.6937+13T>G rs587780868
NM_000059.4(BRCA2):c.9257-10del rs276174919
NM_000059.4(BRCA2):c.9344A>G (p.Lys3115Arg) rs276174923
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000237.3(LPL):c.213C>G (p.His71Gln) rs11542065
NM_000237.3(LPL):c.89-10del rs547644955
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val) rs397516214
NM_000307.5(POU3F4):c.359C>A (p.Pro120Gln)
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000381.4(MID1):c.778G>A (p.Ala260Thr)
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000518.4(HBB):c.29C>G (p.Ser10Cys) rs33918131
NM_000518.5(HBB):c.*56A>G rs537944366
NM_000518.5(HBB):c.363A>C (p.Lys121Asn) rs34726542
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.2140+5G>A
NM_000535.7(PMS2):c.*3G>A rs776493195
NM_000535.7(PMS2):c.2446-19C>T rs1390101876
NM_000546.6(TP53):c.145G>C (p.Asp49His) rs587780728
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del) rs368366214
NM_001005242.3(PKP2):c.2168-4G>C rs376231586
NM_001012759.3(CTU2):c.1399C>T (p.Arg467Cys) rs139862860
NM_001025356.3(ANO6):c.1880+17A>G
NM_001025356.3(ANO6):c.2107G>T (p.Ala703Ser)
NM_001035.3(RYR2):c.6555+8C>G rs1759122
NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys) rs200549195
NM_001148.6(ANK2):c.11032+17G>A rs587780853
NM_001162501.2(TNRC6B):c.3961CAG[5] (p.Gln1326_Gln1328del)
NM_001278116.2(L1CAM):c.1613C>T (p.Thr538Met)
NM_001370259.2(MEN1):c.654+18C>T rs180737290
NM_001378418.1(TCF20):c.4387G>A (p.Ala1463Thr)
NM_001378454.1(ALMS1):c.10214-12dup rs543855806
NM_001378454.1(ALMS1):c.36GGA[8] (p.Glu24_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.75_80del (p.Glu27_Glu28del) rs754175473
NM_001807.6(CEL):c.1974del (p.Val659fs) rs1341981506
NM_002294.3(LAMP2):c.865-8del rs746330494
NM_002878.4(RAD51D):c.904-12TTC[2] rs779850240
NM_003500.4(ACOX2):c.461_464del (p.Thr154fs) rs34391522
NM_004360.5(CDH1):c.1711+9G>C rs368770384
NM_004589.4(SCO1):c.16C>G (p.Leu6Val) rs61753148
NM_004612.4(TGFBR1):c.52GCG[11] (p.Ala25_Ala26dup) rs11466445
NM_004859.4(CLTC):c.2562-6dup
NM_005022.4(PFN1):c.350_351delinsGT (p.Glu117Gly) rs1597686012
NM_005461.5(MAFB):c.565G>A (p.Gly189Arg)
NM_005502.4(ABCA1):c.3104-5dup rs746119307
NM_005502.4(ABCA1):c.4464+12T>C
NM_005502.4(ABCA1):c.721-10del
NM_005502.4(ABCA1):c.886T>A (p.Ser296Thr)
NM_006506.5(RASA2):c.684+15dup rs769572165
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007294.4(BRCA1):c.135-20T>G rs80358025
NM_012062.5(DNM1L):c.251-5dup rs1188011409
NM_013335.4(GMPPA):c.486C>G (p.His162Gln) rs36029384
NM_014225.6(PPP2R1A):c.1547T>C (p.Ile516Thr)
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_015346.4(ZFYVE26):c.443G>C (p.Arg148Pro) rs144919978
NM_015909.4(NBAS):c.1361C>G (p.Pro454Arg)
NM_018684.4(ZC4H2):c.502G>A (p.Ala168Thr)
NM_018896.5(CACNA1G):c.1796C>T (p.Pro599Leu)
NM_019842.4(KCNQ5):c.1358C>T (p.Thr453Ile) rs2150457602
NM_020778.5(ALPK3):c.423-19del rs537375112
NM_021628.3(ALOXE3):c.1559_1562+3dup rs552323537
NM_022437.3(ABCG8):c.1756+16G>A
NM_024675.4(PALB2):c.3202-8G>A rs367979106
NM_025144.4(ALPK1):c.2704A>C (p.Ser902Arg)
NM_032043.3(BRIP1):c.1628+5G>A rs754929230
NM_032043.3(BRIP1):c.508-8G>A rs202074040
NM_032387.5(WNK4):c.3593G>A (p.Arg1198His)
NM_130837.3(OPA1):c.1935+3A>G rs398124300
NM_153252.5(BRWD3):c.4384A>G (p.Ser1462Gly)
NM_174936.4(PCSK9):c.522C>T (p.Pro174=) rs373018373

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